Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history
Hoover-Fong, Julie, Cheung, Moira S., Fano, Virginia, Hagenas, Lars, Hecht, Jacqueline T., Ireland, Penny, Irving, Melita, Mohnike, Klaus, Offiah, Amaka C., Okenfuss, Ericka, Ozono, Keiichi, Raggio, Cathleen, Tofts, Louise, Kelly, Dominique, Shediac, Renée, Pan, Wayne, Savarirayan, Ravi
Published in Bone (New York, N.Y.) (01.05.2021)
Published in Bone (New York, N.Y.) (01.05.2021)
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Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia
Krakow, Deborah, Vriens, Joris, Camacho, Natalia, Luong, Phi, Deixler, Hannah, Funari, Tara L., Bacino, Carlos A., Irons, Mira B., Holm, Ingrid A., Sadler, Laurie, Okenfuss, Ericka B., Janssens, Annelies, Voets, Thomas, Rimoin, David L., Lachman, Ralph S., Nilius, Bernd, Cohn, Daniel H.
Published in American journal of human genetics (13.03.2009)
Published in American journal of human genetics (13.03.2009)
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Journal Article
Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair
Grant, Nathan, Sohn, Young Bae, Ellinwood, N. Matthew, Okenfuss, Ericka, Mendelsohn, Bryce A., Lynch, Leslie E., Braunlin, Elizabeth A., Harmatz, Paul R., Eisengart, Julie B.
Published in Molecular genetics and metabolism reports (01.03.2022)
Published in Molecular genetics and metabolism reports (01.03.2022)
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Journal Article
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.
Published in Journal of clinical immunology (01.04.2016)
Published in Journal of clinical immunology (01.04.2016)
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Journal Article
Axial spondylometaphyseal dysplasia with retinitis pigmentosa—a clinical report and diagnostic clues
Reinstein, Eyal, Okenfuss, Ericka B., Wadhawan, Isha, Wilnai, Yael, Manning, Melanie, Rimoin, David L., Lachman, Ralph S.
Published in Journal of applied genetics (01.05.2013)
Published in Journal of applied genetics (01.05.2013)
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Journal Article
Timing is everything in Hunter syndrome: Differential clinical courses associated with age at initiation of therapy in a sibling pair
Grant, Nathan, Sohn, Young Bae, Ellinwood, N. Matthew, Okenfuss, Ericka, Mendelsohn, Bryce A., Harmatz, Paul R., Eisengart, Julie B.
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
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Journal Article
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.
Published in Journal of clinical immunology (01.04.2016)
Published in Journal of clinical immunology (01.04.2016)
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Journal Article
Blood pressure in adults with short stature skeletal dysplasias
Hoover‐Fong, Julie, Alade, Adekemi Yewande, Ain, Michael, Berkowitz, Ivor, Bober, Michael, Carter, Erin, Hecht, Jacqueline, Hoerschemeyer, Dan, Krakow, Debra, MacCarrick, Gretchen, Mackenzie, William G., Mendoza, Roberto, Okenfuss, Ericka, Popplewell, Deirdre, Raggio, Cathleen, Schulze, Kerry, McGready, John
Published in American journal of medical genetics. Part A (01.01.2020)
Published in American journal of medical genetics. Part A (01.01.2020)
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Journal Article
Bone Aneurysmal Cysts and Pathologic Fracture Associated with Supernumerary Ring Chromosome 6 in Two Unrelated Patients
Hurd, Lauren M., Thacker, Mihir, Okenfuss, Ericka, Duker, Angela L., Lou, Yang, Harty, Mary, Conard, Katrina, Lian, Jane B., Bober, Michael B.
Published in American journal of medical genetics. Part A (28.10.2017)
Published in American journal of medical genetics. Part A (28.10.2017)
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Journal Article
Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients
Hurd, Lauren M., Thacker, Mihir M., Okenfuss, Ericka, Duker, Angela L., Lou, Yang, Harty, Mary P., Conard, Katrina, Lian, Jane B., Bober, Michael B.
Published in American journal of medical genetics. Part A (01.12.2017)
Published in American journal of medical genetics. Part A (01.12.2017)
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Journal Article
Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.
Published in Journal of clinical immunology (01.07.2016)
Published in Journal of clinical immunology (01.07.2016)
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Journal Article
A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay
Baratela, Wagner A.R., Bober, Michael B., Tiller, George E., Okenfuss, Ericka, Ditro, Colleen, Duker, Angela, Krakow, Deborah, Stabley, Deborah L., Sol-Church, Katia, Mackenzie, William, Lachman, Ralph, Scott Jr, Charles I.
Published in American journal of medical genetics. Part A (01.08.2012)
Published in American journal of medical genetics. Part A (01.08.2012)
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